Abstract:Purpose: Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital features. However, known causal genes only account for approximately 3% of patients, indicating the need to discover more pathogenic genes.
Methods: We performed target capture sequencing on SHROOM3 in 320 Chinese HFM patients and evaluated the expression pattern of SHROOM3 and the consequences of deleterious mutations.
Results: Our study identified 9 deleterious mutations in S… Show more
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